Variant #0000820375 (NC_000002.11:g.29296649_29296650insT, NM_001029883.2:c.478_479insA (C2orf71))

Individual ID 00389787
Chromosome 2
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.29296649_29296650insT
DNA change (hg38) g.29073783_29073784insT
Published as PCARE, variant 1: c.478_479insA/p.C160* , variant 2: c.478_479insA/p.C160*
ISCN -
DB-ID C2orf71_000061 See all 4 reported entries
Variant remarks solved, homozygous
Reference PubMed: Weisschuh 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-08 10:11:04 +01:00 (CET)
Date last edited 2024-10-09 08:01:24 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C2orf71 NM_001029883.2 +?/. - c.478_479insA r.(?) p.(Cys160*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391030 DNA SEQ-NG blood RET7 targeted sequencing panel - see paper C2orf71 1 LOVD


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